Associated Papers
Genetic variants of unknown significance in alpha-galactosidase A: Cellular delineation from Fabry disease.
Klein A et al.
Journal of Inherited Metabolic Disease, 2024
Asn215Ser, Ala143Thr, and Arg112Cys variants in α-galactosidase A protein confer stability loss in Fabry's disease.
Sudhan M et al.
Journal of Biomolecular Structure & Dynamics, 2023
Sex Differences in Anderson-Fabry Cardiomyopathy: Clinical, Genetic, and Imaging Analysis in Women.
Faro DC et al.
Genes, 2023
37761944 (PubMed )
Supplement: genes-14-01804-s001.zip › genes-2592602-Supplemental_material.pdf
Impact of enzyme replacement therapy and migalastat on left atrial strain and cardiomyopathy in patients with Fabry disease.
Pogoda C et al.
Frontiers in Cardiovascular Medicine, 2023
Predictors of Fabry disease in patients with hypertrophic cardiomyopathy: How to guide the diagnostic strategy?
Azevedo O et al.
American Heart Journal, 2020
Retinal hyperreflective foci in Fabry disease.
Atiskova Y et al.
Orphanet Journal of Rare Diseases, 2019
Improvement in the sensitivity of newborn screening for Fabry disease among females through the use of a high-throughput and cost-effective method, DNA mass spectrometry.
Lu YH et al.
Journal of Human Genetics, 2018
The Large Phenotypic Spectrum of Fabry Disease Requires Graduated Diagnosis and Personalized Therapy: A Meta-Analysis Can Help to Differentiate Missense Mutations.
Citro V et al.
International Journal of Molecular Sciences, 2016
Gene mutations versus clinically relevant phenotypes: lyso-Gb3 defines Fabry disease.
Niemann M et al.
Circulation. Cardiovascular Genetics, 2014
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